Open AccessMolecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
Author(s) -
Shariati Gholamreza,
Hamid Mohammad,
Saberi Alihossein,
Andashti Behnaz,
Galehdari Hamid
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.168
Subject(s) - medicine , leukoencephalopathy , prenatal diagnosis , pathology , pediatrics , genetics , pregnancy , disease , fetus , biology
Key Clinical Message Megalencephalic leukoencephalopathy ( MLC ) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging ( MRI ). Here we report first finding of a novel homozygous single base deletion in the MLC 1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).